Article
Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation.
Journal of pediatric gastroenterology and nutrition - 1 Nov 2008
Salvestrini Camilla, McGrath John A, Ozoemena Linda, Husain Khaled, Buhamrah Eman, Sabery Nasim, Leichtner Alan, Rufo Paul A, Perez-Atayde Antonio, Orteu Cate H, Torrente Franco, Heuschkel Robert B, Thomson Michael A, Murch Simon H
Abstract excerpt
BACKGROUND: Mutations in alpha6 or beta4 integrins (ITGA6, ITGB4) are known to cause junctional epidermolysis bullosa with pyloric atresia (JEB-PA), often lethal in infancy through skin desquamation. There is 1 report of pyloric atresia associated with a desquamatory enteropathy but without skin disease, of unknown molecular basis. PATIENTS AND METHODS: We report 2 Kuwaiti siblings with pyloric atresia and...
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